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NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis ...

Manuel Sánchez-Maldonado, Jose; Martínez-Bueno, Manuel; Canhao, Helena; ter Horst, Rob; Muñoz-Peña, Sonia; Moñiz-Díez, Ana; Rodríguez-Ramos, Ana

This study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We conducted a case-control study in a European population of 1194 RA patients and 1328 healthy controls. The association of potentially interesting markers was validated with data from the DANBIO (...


Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influenc...

Canet, Luz M.; Sánchez-Maldonado, Jose M.; Cáliz, Rafael; Rodríguez-Ramos, Ana; Lupiañez, Carmen B.; Canhao, Helena; Martínez-Bueno, Manuel

The aim of this case-control study was to evaluate whether 47 single-nucleotide polymorphisms (SNPs) in steroid hormone-related genes are associated with the risk of RA and anti-TNF drug response. We conducted a case-control study in 3 European populations including 2936 RA patients and 2197 healthy controls. Of those, a total of 1985 RA patients were treated with anti-TNF blockers. The association of potential...


Genetic variants within immune-modulating genes influence the risk of developin...

Canet, Luz M.; Cáliz, Rafael; Lupiañez, Carmen B.; Canhao, Helena; Martinez, Manuel; Escudero, Alejandro; Filipescu, Ileana; Segura-Catena, Juana

Background: Rheumatoid arthritis (RA) is a chronic autoimmune disease that arises as a result of the interaction between genetic and environmental factors. A growing body of research suggests that genetic variants within immune-related genes can influence the risk of developing the disease and affect drug response. Materials and methods: To test this hypothesis, we carried out a comprehensive two-stage case-con...


TRAF1/C5 but not PTPRC variants are potential predictors of rheumatoid arthriti...

Canhao, Helena; Rodrigues, Ana Maria; Santos, Maria; Carmona-Fernandes, Diana; Bettencourt, Bruno F.; Cui, Jing; Rocha, Fabiana L.; Canas Silva, José

Background: The aim of our work was to replicate, in a Southern European population, the association reported in Northern populations between PTPRC locus and response to anti-tumor necrosis factor (anti-TNF) treatment in rheumatoid arthritis (RA). We also looked at associations between five RA risk alleles and treatment response. Methods: We evaluated associations between anti-TNF treatment responses assessed b...


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